Development

Question 1

What are significant causes of delayed puberty?

Answer 1

Constitutional delay (usually familial)
Chronic illness
Poor nutrition 
Chromosomal abnormalities eg Turner syndrome
Gonadal failure

Question 2

What is precocious puberty?

Answer 2

Appearance of puberty

Question 3

What investigations could be considered in precocious puberty?

Answer 3

FSH, LH, gonadal steroid (testosterone or oestrodiol), bone age, MRI brain if FSH or LH increased

Question 4

What are growing pains?

Answer 4

Diffuse aches and pain in legs of children usually aged 3-7. May wake them at night. Poorly localised. Lasts 20-30minutes then self resolves. Normal examination
Check ESR if in doubt

Question 5

What investigation should you consider in developmental disability and delay?

Answer 5

Screen for congenital infection eg rubella, toxoplasmosis, CMV)
Chromosome studies (karyotyping)
Urine metabolic screen eg PKU
Creatine phosphokinase in males (Spinal muscular atrophy)
Thyroid function tests
DNA tests eg prader willi, fragile x, williams
CT scan/ MRI

Question 6

What are the 2 most common sizes of intellectual disability?

Answer 6

Trisomy 21 and fragile x

Question 7

What is cerebral palsy?

Answer 7

A persistent motor disorder of movement and posture resulting from prenatal developmental abnormalities, or peri or postnatal CNS damage

Question 8

What is delayed puberty?

Answer 8

Absence of pubertal development in girls > 14 and boys >15